My husband and I have been receiving the MSUD newsletters for about 10 years now. They have been enormously helpful to us as we learned more about how to care for our daughter and what to expect as she grew. I look forward to give back to this organization which has given so much to me. Here is my story: I married at the relatively ripe old age of 35. Knowing that time was of the essence, I carefully underwent genetic testing for known Jewish genetic diseases while I was planning my wedding. Everything was negative.
When our daughter Hannah was born after an uneventful pregnancy, we were told we had a wonderful, healthy baby girl. We left the hospital on a beautiful May Friday, full of promise and expectations of how perfect our lives were and would continue to be. Over the weekend, Hannah seemed to lose her appetite. I thought it was because I was inexperienced at nursing. I also noticed that her diapers felt dry. On Monday morning I called the pediatrician, who told me that she probably wasn't very hungry. I went to a nursing specialist at the hospital for help with my technique. By Tuesday night she was experiencing episodes of hypertonicity and had developed a strange, high-pitched cry. Clearly something was wrong. I brought her to the doctor the next morning, still thinking that the problem was an inability to nurse adequately. He weighed her, saw she had lost almost 2 pounds, and immediately admitted her.
That afternoon she lapsed into a coma. Unfortunately, it wasn't until 2 days later, when she was 10 days old and still in a coma, that the results of the newborn screening came in. Hannah had Maple Syrup Urine Disease. She was transferred to New York University Hospital and placed under the care of Dr. Claude Sansaricq. Under his treatment she immediately began to recover. We were lucky. Although she had spent 2 ½ days in a coma and wasn't diagnosed until her 10th day of life, Hannah has very mild physical delays and no apparent mental deficits. She has received excellent care throughout her 11 years. While she had several severe decompensations in her early years, she has been stable for the last several years. She is a special child, as are all of yours.
Unlike most of you, I suspect, the name given to her disease wasn't completely foreign to me. I received a Master's degree in Food and Nutrition and became a Registered Dietitian in the early 1980's and have been practicing in the field ever since. This was one of those diseases that I had heard of way back when in one of my graduate courses.
Whenever I tell people about my daughter, they ask if I became a dietitian in response to her disease. No, I say, it was simply a twist of fate. My education has probably made it easier for me to deal with her disease and dietary management. I have not experienced anxiety over my abilities to adhere to her restrictions, as perhaps some of you have.
I decided to go back to school after Hannah was born and earn a doctoral degree. I thought about specializing in metabolic diseases, but for me it was easier to keep my work and my child's life separate. I specialize in sports nutrition and obesity management. While much of the work I do is with athletes, I also maintain a clinical practice where I see people with diabetes, heart disease, kidney disease... just about everything but metabolic diseases.
Hannah receives her care through the Mt. Sinai School of Medicine, which has an extensive Department of Human Genetics. In 1997 we founded the Genetic Disease Foundation, represented by friends and families affected by genetic diseases including metabolic diseases, Tay Sachs, Neimann-Picks, Cystic Fibrosis, Canavan Disease and others. I serve on the board of this organization, whose mission is to support education and research for the prevention and cure of genetic diseases.
An Introduction to Your New Newsletter Editor
- Written by Karen R. Dolins